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- Eriksson, Daniel, et al.
(författare)
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Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison’s disease in Sweden
- 2018
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Ingår i: Scientific Reports. - : Nature Publishing Group. - 2045-2322. ; 8:1
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Tidskriftsartikel (refereegranskat)abstract
- Autoimmune Addison's disease (AAD) is the predominating cause of primary adrenal failure. Despite its high heritability, the rarity of disease has long made candidate-gene studies the only feasible methodology for genetic studies. Here we conducted a comprehensive reinvestigation of suggested AAD risk loci and more than 1800 candidate genes with associated regulatory elements in 479 patients with AAD and 2394 controls. Our analysis enabled us to replicate many risk variants, but several other previously suggested risk variants failed confirmation. By exploring the full set of 1800 candidate genes, we further identified common variation in the autoimmune regulator (AIRE) as a novel risk locus associated to sporadic AAD in our study. Our findings not only confirm that multiple loci are associated with disease risk, but also show to what extent the multiple risk loci jointly associate to AAD. In total, risk loci discovered to date only explain about 7% of variance in liability to AAD in our study population.
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- Eriksson, D, et al.
(författare)
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Extended exome sequencing identifies BACH2 as a novel major risk locus for Addison's disease
- 2016
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Ingår i: Journal of Internal Medicine. - : Wiley. - 0954-6820 .- 1365-2796. ; 286:6, s. 595-608
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Autoimmune disease is one of the leading causes of morbidity and mortality worldwide. In Addison's disease, the adrenal glands are targeted by destructive autoimmunity. Despite being the most common cause of primary adrenal failure, little is known about its aetiology.METHODS: To understand the genetic background of Addison's disease, we utilized the extensively characterized patients of the Swedish Addison Registry. We developed an extended exome capture array comprising a selected set of 1853 genes and their potential regulatory elements, for the purpose of sequencing 479 patients with Addison's disease and 1394 controls.RESULTS: We identified BACH2 (rs62408233-A, OR = 2.01 (1.71-2.37), P = 1.66 × 10(-15) , MAF 0.46/0.29 in cases/controls) as a novel gene associated with Addison's disease development. We also confirmed the previously known associations with the HLA complex.CONCLUSION: Whilst BACH2 has been previously reported to associate with organ-specific autoimmune diseases co-inherited with Addison's disease, we have identified BACH2 as a major risk locus in Addison's disease, independent of concomitant autoimmune diseases. Our results may enable future research towards preventive disease treatment.
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- Gyllén, Jenny, 1968, et al.
(författare)
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Important sources of information to support self-management for families of children with pediatric cataracts – based on PECARE Sweden/Sahlgrenska University Hospital
- 2015
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Ingår i: International Journal of Ophthalmic Practice. - : Mark Allen Group. - 2044-5504 .- 2052-2851. ; 6:1, s. 23-29
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Tidskriftsartikel (refereegranskat)abstract
- ABSTRACT Purpose The aim of this study was to improve treatment concordance by investigating important sources of information on self-management for families of children with pediatric cataracts, from the perspective of parents and ophthalmologists. Methods This mixed-method study involved a deductive approach using a questionnaire administered to 69 families of children operated on and registered with the Swedish Pediatric Cataract Register (PECARE Sweden) in southern Sweden, as well as 30 pediatric ophthalmologists who monitored the patients upon their return to the local health care facility. An inductive approach was applied using analysis of open-ended questions about self-management. Both groups were asked about their perception of the value of strategies for providing information, and the timing of this. Results The response rate was 68% for families and 93% for ophthalmologists. Both groups agreed that ophthalmology visits were the most important source of information, followed by information in writing and online. Parents of children diagnosed before the age of 3 months were more likely to prefer written information. Content analysis revealed that a person-centred care is important. Conclusion Parents, particularly of the youngest children, requested more and directed information. By promoting self-management, a person-centred care may play a decisive role in treatment outcome.
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KTHA #1
- 2010
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Samlingsverk (redaktörskap) (populärvet., debatt m.m.)abstract
- Innehåll|Contents"Gunnar Henriksson: Mannen bakom allt", Ola Andersson, Hans Loord"Nittonhundraåttiofem" Ola Andersson"Landscape as a Body (To Dress)", Katja Grillner"Nya Slussen", Daniel Johansson, Johanna Håkansdotter- Karlsson, Tor Lindstrand, Martin Losos, Victor Mickelsson, Sara Vall, Ann-Charlotte Wiklander, Frida Öhlin"Patchwork: Albano Sustainable Campus", Stephan Bartel, Johan Colding, Hanna Erixon, Henrik Ernstson, Sara Grahn, Matts Ingman, Carl Kärsten, Lars Marcus, Jonas Torsvall"Multireligiös begravningsplats på Järva friområde", Henrik Vogt"Bridging the Gap", Alexis Pontvik"Tullinge Idea Store: Plats, struktur, program" Jesús Azpeitia"Treasures from the Archive: Der Städtebau nach seinen künstlerischen Grundsätzen, Camillo Sitte", Anders Bergström"Reading Architecture and Beauty: Conversations with Architects about a Troubled Relationship, Yael Reisner with Fleur Watson", Frida Rosenberg"Leon Battista Alberti, Identical Copies, and the Early Modern Invention of Architectural Design", Mario Carpo"Three Concepts of Performative Design: Proturbance, Porosity, Venation", Marcelyn Gow, Ulrika Karlsson, Daniel Norell
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Perspecta 40 "Monster" : The Yale Architectural Journal
- 2008
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Samlingsverk (redaktörskap) (refereegranskat)abstract
- Contemporary architecture is in many ways a monstrous thing. It is bigger, more broadly defined, increasingly complicated, more costly, and stylistically and formally heterogeneous—if not downright unhinged. Not only is the scale of the built environment expanding, but so is the territory of the architectural profession itself. A perfect storm of history, technology, economics, politics, and pedagogy has generated a moment in time in which anything seems possible. The results have been at times strange and even frightening.Long ago, the birth of an abnormal creature was interpreted as a sign of looming trouble. These monstra—from the Latin monere, "to warn" and monstrare, "to show"—were viewed with both fear and fascination. This fortieth issue of Perspecta—the oldest and most distinguished student-edited architectural journal in America—examines architecture past and present through the lens of the monster. The contributors—a diverse group of scholars, practitioners, and artists—embrace the multitude of meanings this term carries in an attempt to understand how architecture arrived at its present situation and where it may be going. Perspecta 40 represents in itself a kind of monster—a hybrid, jumbled, conflicting amalgamation of work and ideas that looks at the past in new ways and tells of things to come.Contributors: Philip Bernstein, Mario Carpo, Arindam Dutta, Ed Eigen, Mark Gage, Gensler, Marcelyn Gow and Ulrika Karlsson (servo), Catherine Ingraham, Mark Jarzombek, Terry Kirk, Leon Krier, Greg Lynn, John May, John McMorrough, Colin Montgomery, Guy Nordenson, Eeva-Liisa Pelkonen, Emmanuel Petit, Kevin Roche, Yoshiharu Tsukamoto (Atelier Bow-Wow) and Ryuji Fujimura, Michael Weinstock, Claire Zimmerman.
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- Rosenberg, Frida
(författare)
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A transnational passage of Swedish architects to Texas, and reverse
- 2023
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Konferensbidrag (refereegranskat)abstract
- This is a story on how architecture in Sweden was influenced by the “Texas Rangers” –an unprecedented teaching program taking place at UT Austin in the late 1950s leading the way in architecture pedagogy eventually formulating the origins and explanations for a postmodern revolution in architecture of the 1980s.[1] It is also a story on how fragments of classical architecture makes up the foundation for the postmodern era, which has a revival in design practices today reaching a new cohesion.Via ivy-league educators staking down their territory in the Texas landscape, the ripple effects of this foundational architecture program at UT Austin spread all the way to Sweden. First, through architect Lars Lerup, Dean at Rice School of Architecture in 1993-2009. Second, through a productive exchange program for students and teachers at Lund University during the same timeframe. In this way Swedish architects found themselves in the urban densities of Houston, Austin, and Dallas-Fort Worth, while Texas professors spent a semester in Lund teaching architecture. A central figure in this transnational passage of Swedish architects, and reverse, is Abelardo Gonzalez. An architect who designed unforgettable postmodern interiors of the underground world in Malmö, Sweden. Like most interior designs, only fragments of these designs remain. Yet, the drawings and models and other documents are a recent acquisition to the Center for Swedish architecture and Design, ArkDes. These are an archival treasure that can add an additional understanding of how the Texas Rangers teaching program influenced Swedish postmodernism, architecture education as well as why it makes sense to revisit this lineage in history from a contemporary design perspective. [1] The Texas Rangers are made up by Collin Rowe, John Hejduk, Robert Slutzky, Werner Seligmann, among others.
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| 9. |
- Rosenberg, Frida
(författare)
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Arne johnson’s material research introducing steel frame building in postwar sweden
- 2019
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Ingår i: Structures and Architecture. - : Informa UK Limited. ; , s. 997-1004
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Konferensbidrag (refereegranskat)abstract
- By introducing structural steel in the 1960s Sweden, the Wenner-Gren Center, a 25-storey building, signaled the advent of new assembling technologies in architecture that would change the structure and practice of material use in Swedish postwar environment. This paper establishes how construction occurred at the project planning stage, engaging building consultants, the building committee and the engineer Arne Johnson. During and in the time between meetings, these various actors discussed the conditions for the high-rise. Investigations of the ground at the site were formalized in a report; tables specified the timeframe for building the structure; and building costs calculations served as documentation of how the high-rise could be realized. In these documents representing different voices, the engineer holds expertise and power, showcasing how Arne Johnson’s voice was decisive in implementing a steel structure for the building.
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